- Mutation Hotspot for Changing the Substrate Specificity of β-N-Acetylhexosaminidase: A Library of GlcNAcases2022 | Přírodovědecká fakulta, Ústřední knihovna
- The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene2016 | Lékařská fakulta v Plzni
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants2020 | Matematicko-fyzikální fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 2. lékařská fakulta
- The red thread between methylation and mutation in bacterial antibiotic resistance: How third-generation sequencing can help to unravel this relationship2022 | Lékařská fakulta v Plzni
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation2016 | 2. lékařská fakulta
- Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy2012 | 3. lékařská fakulta
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | 2. lékařská fakulta
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | 1. lékařská fakulta
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood2022 | 2. lékařská fakulta